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Article

Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.

American journal of medical genetics. Part A - 1 Jun 2015

Zhang Li, Lai Yu-Hung, Capasso Jenina E, Han Stella, Levin Alex V

Abstract excerpt

Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. We report on a family with ectopia lentis. The propositus is a 6-year-old boy with bilateral superior-temporal ectopia lentis. His echocardiogram was normal and he did not meet the revised Ghent criteria for Marfan syndrome. Molecular genetic testing revealed c.1948 C>T (p.Arg650Cys) in FBN1. The mother has...

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Source

Identifiers

PMID: 25900864
DOI: 10.1002/ajmg.a.37035

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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